Results 101 to 110 of about 23,741,217 (251)

Arrhythmogenic Cardiomyopathy: Towards Genotype Based Diagnoses and Management

Journal of Cardiovascular Electrophysiology, EarlyView.
To improve arrhythmogenic cardiomyopathy (ACM) patient care four pillars of ACM research are necessary. The first pillar to improve ACM is cohort studies in which the genotype‐specific natural history of disease is described, and subsequently genotype‐specific risk calculators can be developed, such as the DSP and PLN risk calculators.
Steven A. Muller, Giorgia Bertoli, Jianan Wang, Alessio Gasperetti, Moniek G. P. J. Cox, Hugh Calkins, Anneline S. J. M. te Riele, Daniel P. Judge, Mario Delmar, Richard N. W. Hauer, Gerard J. J. Boink, Marina Cerrone, J. Peter van Tintelen, Cynthia A. James   +13 more
wiley   +1 more source

The role of nitric oxide synthases in pemphigus vulgaris in a mouse model [PDF]

, 2008
Pemphigus vulgaris (PV) is a blistering autoimmune disease characterized by IgG autoantibodies against desmoglein 3. Nitric oxide synthases (NOS) may contribute to the increase of inflammation in tissues by the generation of ...
España, A. (Agustín), Fernadez-Galar, M. (Marta), Lopez-Zabalza, M.J. (María Jesús), Marquina, M. (Miren)   +3 more
core   +1 more source

Case Report: Autoimmune Pemphigus Vulgaris in a Patient Treated With Cemiplimab for Multiple Locally Advanced Cutaneous Squamous Cell Carcinoma

Frontiers in Oncology, 2021
BackgroundPemphigus vulgaris (PV) is a rare and severe autoimmune blistering disorder affecting the skin and mucous membranes, characterized by the production of autoantibodies against two desmosomal adhesion proteins, desmoglein 1 and 3.
Rosalba Buquicchio, Valentina Mastrandrea, Sabino Strippoli, Davide Quaresmini, Michele Guida, Raffaele Filotico   +5 more
doaj   +1 more source

Clinical Features and Current Therapeutic Approaches to Monilethrix: A Systematic Review

Pediatric Dermatology, EarlyView.
ABSTRACT Monilethrix is a rare congenital hair disorder characterized by fragile, beaded hair shafts due to mutations in various keratin or desmoglein 4 genes. A systematic review of 24 studies (16 pediatric only, 3 mixed adult and pediatric, 3 adult only, and 2 unspecified) evaluating various treatment modalities identified topical and oral minoxidil ...
Adam C. Yu, Dana Koroluk, Fatmah Alzahrani   +2 more
wiley   +1 more source

Lots of autoantibodies equal lupus? [PDF]

, 2013
Autoantibodies may be found years before an autoimmune disease becomes clinically apparent. For systemic lupus erythematosus (SLE), those to RNA-binding proteins, to phospholipids, and to double-stranded DNA, in particular, have been found in sera of SLE
Aringer, M, Vital, E
core   +1 more source

Desmoglein ELISA in the Diagnosis of Pemphigus and Its Correlation with the Severity of Pemphigus Vulgaris

Iranian Journal of Allergy, Asthma and Immunology, 2009
Anti-desmoglein 3 and 1 autoantibodies are involved in the pathogenesis of pemphigus diseases. Our objective was to assess the value of ELISA in the diagnosis of pemphigus and its correlation with the severity of pemphigus vulgaris.
Mortazavi Hossein, Shahdi Majid , Amirzargar Ali Akbar , S.Naraghi Zahra, Valikhani Mahin , Daneshpazhooh Maryam, Vasheghani-Farahani Amir, Sedaghat Mojtaba, Chams-Davatchi Cheyda   +8 more
doaj  

Paraneoplastic pemphigus: insight into the autoimmune pathogenesis, clinical features and therapy [PDF]

, 2017
Paraneoplastic pemphigus is a rare autoimmune skin disease that is always associated with a neoplasm. Usually, oral, skin, and mucosal lesions are the earliest manifestations shown by paraneoplastic pemphigus patients.
Andrea Ciofalo, Biagio Didona, Bialy-Golan, Dario Didona, Elisa Moliterni, Giannicola Iannella, Giovanni Paolino, Giuseppe Magliulo, Guido Granata, Hainsworth, Martínez De Pablo, Matz, Michele Donati, Mutasim, Nguyen, Patricia Ranuzzi, Santo Mercuri, Schepens, Stefano Calvieri, Su, Vincenzo Falasca, Zimmermann   +21 more
core   +2 more sources

Hailey‐Hailey Disease: An Updated Review With a Focus on Therapeutic Mechanisms

Health Science Reports, Volume 8, Issue 7, July 2025.
ABSTRACT Background Hailey‐Hailey disease (HHD), or familial benign chronic pemphigus, is a rare autosomal dominant genodermatosis characterized by chronic, painful, erythematous, erosive plaques and fissures at sites of friction such as the neck, axilla, groin, and perineum.
Mahesh Mathur, Sumit Paudel, Nabita Bhattarai, Sambidha Karki, Sandhya Regmi   +4 more
wiley   +1 more source

An imbalance in Akt/mTOR is involved in the apoptotic and acantholytic processes in a mouse model of pemphigus vulgaris [PDF]

, 2009
Pemphigus vulgaris (PV) is an autoimmune blistering disease characterized by the presence of IgG autoantibodies against Dsg3. Our aim was to investigate the molecular events implicated in the development and localization of apoptosis and acantholysis in ...
España, A. (Agustín), Lopez-Picazo, J.M. (José M.), Lopez-Zabalza, M.J. (María Jesús), Marquina, M. (Miren), Pelacho, B. (Beatriz), Pretel, M. (Maider)   +5 more
core   +1 more source

Gluten‐related skin disorders: clinical presentation, diagnostic and treatments

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 7, Page 857-867, July 2025.
Summary Gluten‐related disorders (GRDs) encompass a spectrum of clinical manifestations triggered by gluten ingestion in genetically susceptible individuals. These disorders include celiac disease (CD) and non‐celiac gluten sensitivity (NCGS) and present with both intestinal and extraintestinal symptoms, including skin manifestations.
Dario Didona, Roberto Maglie, Farzan Solimani   +2 more
wiley   +1 more source